Sideroblastic anemia (patient information)
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Sideroblastic anemia |
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Sideroblastic anemia On the Web |
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anemia=Sideroblastic+anemia Ongoing Trials at Clinical Trials.gov |
Overview
Sideroblastic anaemia is a blood condition where body produces enough iron but is unable to put it into the haemoglobin. A sideroblast is a cell in which there is an abnormally large build up or iron. Sideroblastic anaemia is a rare disorder. Some forms of the condition are X-linked. Some forms, usually seen in adults, are acquired by exposure to alcohol, lead or drugs.
What are the symptoms of Sideroblastic anemia?
- Headache
- Weaknes
- Fatigue
- Breathing difficulty
- Rapid pulse
- Irritibility
- Chest pain
What causes Sideroblastic anemia?
Sideroblastic anemia can be caused by heriditory or acquired factors.
Heriditory causes of sideroblastic anemia include
- Mutations in ALAS2, ABCB7, SCL19A2, GLRX5 and PSU1 genes.
- Pearson syndrome
- DIDMOAD syndrome
- Mitochondrial SLC25A38
- Erythropoietic protoporphyria
- Acquired causes of sideroblastic anemia include:[2][3]
- Myelodysplastic syndrome
- Nutritional deficiencies (copper, vitamin B6)
- Lead poisoning
- Zinc overdose
- Alcohol
- Drugs (anti-tuberculous agents, antibiotics, progesterone, chelators, busulfan)
- Hypothermia
Who is at highest risk?
- Common risk factors in the development of sideroblastic anemia are
- Male gender (X-linked SA)
- Family history of hereditary SA
- Chronic alcohol abuse
- Lead toxicity
- Drugs
- Copper deficiency
- Pyridoxine deficiency
- Hypothermia affecting mitochondrial functions
- High dose zinc supplemets
Diagnosis
The diagnostic workup for sideroblastic include
- Blood work (complete blood count, peripheral smear, iron studies)
- Bone marrow aspiration.
When to seek urgent medical care?
You should go to urgent care immediatly if you experience:
- Chest pain
- Difficulty breathing
- Severe abdominal pain
- Bleeding from gums or nose
- Extreme weakness
- Fever
Treatment options
- There are various drugs that are used to treat sideroblastic anaemia, including pyridoxine.
- Iron overload can be treated by deferoxamine.
- Blood transfusions are also used to treat the condition
Where to find medical care for Sideroblastic anemia?
Where to find Medical Care for (Disease name)?
Medical care for (Sideroblastic anemia) can be found here.
Prevention
We can not prevent the heriditory sideroblastic anemia but we can take following measures to prevent acquired form of syderoblastic anemia.
- Refraining from alcohol
- Avoid excessive intake of zinc
- Nutritional supplements
- Pyridoxine prophylaxis with isoniazid
- Prenatal genetic counseling in high risk pregnancies.
What to expect (Outlook/Prognosis)?
The prognosis depends on the severity of the disease. Finding the cause is the main factor which determines the prognosis
Possible complications
As sideroblastic anemia has a vast majority of causes the complications depends on the specific etiology